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    CFHR4 complement factor H related 4 [ Homo sapiens (human) ]

    Gene ID: 10877, updated on 27-Nov-2024

    Summary

    Official Symbol
    CFHR4provided by HGNC
    Official Full Name
    complement factor H related 4provided by HGNC
    Primary source
    HGNC:HGNC:16979
    See related
    Ensembl:ENSG00000134365 MIM:605337; AllianceGenome:HGNC:16979
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FHR4; CFHL4; FHR-4
    Summary
    This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]
    Expression
    Restricted expression toward liver (RPKM 22.1) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CFHR4 in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196888052..196918633)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196149839..196180430)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196857182..196887763)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement factor H related 1 Neighboring gene complement factor H-related protein 3-like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:196827453-196828652 Neighboring gene Sharpr-MPRA regulatory region 8052 Neighboring gene uncharacterized LOC105371675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:196902813-196903312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:196910913-196911413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2275 Neighboring gene complement factor H related 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:196960781-196961380 Neighboring gene complement factor H related 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Atypical hemolytic-uremic syndrome not available

    EBI GWAS Catalog

    Description
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables complement component C3b binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lipid transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    complement factor H-related protein 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028159.1 RefSeqGene

      Range
      5039..35620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1224

    mRNA and Protein(s)

    1. NM_001201550.3NP_001188479.1  complement factor H-related protein 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001188479.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as FHR-4A).
      Source sequence(s)
      AJ640130, AK292752, BX248415, X98337
      Consensus CDS
      CCDS91133.1
      UniProtKB/Swiss-Prot
      A8K9N7, B1ALQ9, C9J7J7, Q5DVJ7, Q92496, Q9UJY6
      Related
      ENSP00000477162.2, ENST00000608469.6
      Conserved Domains (3) summary
      cd00033
      Location:458513
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:339577
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:2783
      Sushi; Sushi repeat (SCR repeat)
    2. NM_001201551.2NP_001188480.1  complement factor H-related protein 4 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate acceptor splice site in the 5' coding region compared to variant 1, resulting in an isoform (2) shorter by 1 aa compared to isoform 1.
      Source sequence(s)
      AJ640130, AK292752, BX248415
      Consensus CDS
      CCDS55671.1
      UniProtKB/Swiss-Prot
      Q92496
      Related
      ENSP00000356386.2, ENST00000367416.6
      Conserved Domains (3) summary
      cd00033
      Location:457512
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:338576
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:2682
      Sushi; Sushi repeat (SCR repeat)
    3. NM_006684.5NP_006675.2  complement factor H-related protein 4 isoform 3 precursor

      See identical proteins and their annotated locations for NP_006675.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is missing four consecutive coding exons compared to variant 1. However, it maintains the reading frame and encodes isoform 3 (also known as FHR-4B), which is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AJ640130, AK292752, X98337
      Consensus CDS
      CCDS41451.1
      UniProtKB/Swiss-Prot
      Q92496
      Related
      ENSP00000251424.4, ENST00000251424.8
      Conserved Domains (3) summary
      cd00033
      Location:211266
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:92330
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:2783
      Sushi; Sushi repeat (SCR repeat)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      196888052..196918633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440640.1XP_047296596.1  complement factor H-related protein 4 isoform X2

    2. XM_047440639.1XP_047296595.1  complement factor H-related protein 4 isoform X1

      Related
      ENST00000699463.1
    3. XM_017000111.2XP_016855600.1  complement factor H-related protein 4 isoform X3

    4. XM_017000113.2XP_016855602.1  complement factor H-related protein 4 isoform X5

    5. XM_047440659.1XP_047296615.1  complement factor H-related protein 4 isoform X4

    6. XM_047440683.1XP_047296639.1  complement factor H-related protein 4 isoform X6

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791754.1 Reference GRCh38.p14 PATCHES

      Range
      653141..683733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332739.1XP_054188714.1  complement factor H-related protein 4 isoform X7

    2. XM_054332735.1XP_054188710.1  complement factor H-related protein 4 isoform X2

    3. XM_054332734.1XP_054188709.1  complement factor H-related protein 4 isoform X1

    4. XM_054332736.1XP_054188711.1  complement factor H-related protein 4 isoform X3

    5. XM_054332738.1XP_054188713.1  complement factor H-related protein 4 isoform X5

    6. XM_054332737.1XP_054188712.1  complement factor H-related protein 4 isoform X4

    7. XM_054332740.1XP_054188715.1  complement factor H-related protein 4 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      196149839..196180430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333945.1XP_054189920.1  complement factor H-related protein 4 isoform X8

    2. XM_054333942.1XP_054189917.1  complement factor H-related protein 4 isoform X2

    3. XM_054333941.1XP_054189916.1  complement factor H-related protein 4 isoform X1

    4. XM_054333943.1XP_054189918.1  complement factor H-related protein 4 isoform X3

    5. XM_054333944.1XP_054189919.1  complement factor H-related protein 4 isoform X4

    6. XM_054333946.1XP_054189921.1  complement factor H-related protein 4 isoform X6

    RNA

    1. XR_008485879.1 RNA Sequence